Canonical Allele Identifier: CA2135436

Gene: PAX3

Linked Data

• dbSNP Id: rs763426571
• ExAC: 2:223066711 A / G
• gnomAD v2: 2-223066711-A-G
• gnomAD v4: 2-222201992-A-G
• MyVariant Identifiers: chr2:g.223066711A>G (hg19) ; chr2:g.222201992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201992A>G , CM000664.2:g.222201992A>G	GRCh38
NC_000002.11:g.223066711A>G , CM000664.1:g.223066711A>G	GRCh37
NC_000002.10:g.222774955A>G	NCBI36
NG_011632.1:g.101990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-550T>C	ENSP00000338767.5:n.1174-550T>C
ENST00000344493.9:c.1174-550T>C	ENSP00000342092.4:n.1174-550T>C
ENST00000350526.9:c.1372T>C	ENSP00000343052.4:p.Tyr458His
ENST00000392070.7:c.1372T>C MANE Select	ENSP00000375922.3:p.Tyr458His
ENST00000464706.6:n.810T>C
ENST00000644699.1:n.698T>C
ENST00000646154.1:n.1186T>C
ENST00000336840.10:c.1174-550T>C	ENSP00000338767.5:n.1174-550T>C
ENST00000344493.8:c.1174-550T>C	ENSP00000342092.4:n.1174-550T>C
ENST00000350526.8:c.1372T>C	ENSP00000343052.4:p.Tyr458His
ENST00000392069.6:c.1372T>C	ENSP00000375921.2:p.Tyr458His
ENST00000392070.6:c.1372T>C	ENSP00000375922.2:p.Tyr458His
ENST00000409551.7:c.1369T>C	ENSP00000386750.3:p.Tyr457His
ENST00000464706.5:n.796T>C
NM_001127366.2:c.1369T>C	NP_001120838.1:p.Tyr457His
NM_181457.3:c.1372T>C	NP_852122.1:p.Tyr458His
NM_181458.3:c.1372T>C	NP_852123.1:p.Tyr458His
NM_181459.3:c.1372T>C	NP_852124.1:p.Tyr458His
NM_181460.3:c.1174-550T>C	NP_852125.1:n.1174-550T>C
NM_181461.3:c.1174-550T>C	NP_852126.1:n.1174-550T>C
XM_011511278.1:c.1516T>C	XP_011509580.1:p.Tyr506His
XM_011511279.1:c.808T>C	XP_011509581.1:p.Tyr270His
NM_001127366.3:c.1369T>C	NP_001120838.1:p.Tyr457His
NM_181457.4:c.1372T>C	NP_852122.1:p.Tyr458His
NM_181458.4:c.1372T>C MANE Select	NP_852123.1:p.Tyr458His
NM_181459.4:c.1372T>C	NP_852124.1:p.Tyr458His
NM_181460.4:c.1174-550T>C	NP_852125.1:n.1174-550T>C
NM_181461.4:c.1174-550T>C	NP_852126.1:n.1174-550T>C